ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)

dbSNP: rs1554984881
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578450 SCV000680394 likely pathogenic Spinocerebellar ataxia type 5 2017-09-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992843 SCV001145406 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001815002 SCV002061975 uncertain significance not specified 2017-09-14 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000578450 SCV002580378 uncertain significance Spinocerebellar ataxia type 5 2021-12-21 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.